Name: rs5891968
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs5891968

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr8:64607399-64607416 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: del(A)₅ / del(A)₄ / delAAA / delAA…
del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₇ / dup(A)₉ / dup(A)₁₀ / dup(A)₁₁ / dup(A)₁₃ / ins(A)₁₉ / del(A)₁₈ins(T)₁₆ / del(A)₁₈ins(T)₁₉
Variation Type: Indel Insertion and Deletion
Frequency: (A)₁₈=0.3085 (1585/5138, ALFA)
(A)₁₈=0.3952 (1979/5008, 1000G)
delAA=0.1850 (713/3854, ALSPAC)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CYP7B1 : Intron Variant
Publications: 0 citations
Genomic View: See rs on genome

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	5138	(A)₁₈=0.3085	del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0016, delAA=0.0987, delA=0.5477, dupA=0.0436, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	European	Sub	4724	(A)₁₈=0.2492	del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0017, delAA=0.1073, delA=0.5950, dupA=0.0468, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	African	Sub	314	(A)₁₈=1.000	del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Latin American 2	Sub	40	(A)₁₈=1.00	del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Other	Sub	28	(A)₁₈=0.79	del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.11, dupA=0.11, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Asian	Sub	18	(A)₁₈=1.00	del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Latin American 1	Sub	8	(A)₁₈=1.0	del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0
Allele Frequency Aggregator	South Asian	Sub	6	(A)₁₈=1.0	del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0
1000Genomes	Global	Study-wide	5008	(A)₁₈=0.3952	delA=0.6048
1000Genomes	African	Sub	1322	(A)₁₈=0.3949	delA=0.6051
1000Genomes	East Asian	Sub	1008	(A)₁₈=0.4335	delA=0.5665
1000Genomes	Europe	Sub	1006	(A)₁₈=0.3161	delA=0.6839
1000Genomes	South Asian	Sub	978	(A)₁₈=0.465	delA=0.535
1000Genomes	American	Sub	694	(A)₁₈=0.356	delA=0.644
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	(A)₁₈=0.8150	delAA=0.1850

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 8	NC_000008.11:g.64607412_64607416del
GRCh38.p14 chr 8	NC_000008.11:g.64607413_64607416del
GRCh38.p14 chr 8	NC_000008.11:g.64607414_64607416del
GRCh38.p14 chr 8	NC_000008.11:g.64607415_64607416del
GRCh38.p14 chr 8	NC_000008.11:g.64607416del
GRCh38.p14 chr 8	NC_000008.11:g.64607416dup
GRCh38.p14 chr 8	NC_000008.11:g.64607415_64607416dup
GRCh38.p14 chr 8	NC_000008.11:g.64607414_64607416dup
GRCh38.p14 chr 8	NC_000008.11:g.64607413_64607416dup
GRCh38.p14 chr 8	NC_000008.11:g.64607410_64607416dup
GRCh38.p14 chr 8	NC_000008.11:g.64607408_64607416dup
GRCh38.p14 chr 8	NC_000008.11:g.64607407_64607416dup
GRCh38.p14 chr 8	NC_000008.11:g.64607406_64607416dup
GRCh38.p14 chr 8	NC_000008.11:g.64607404_64607416dup
GRCh38.p14 chr 8	NC_000008.11:g.64607416_64607417insAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 8	NC_000008.11:g.64607399_64607416delinsTTTTTTTTTTTTTTTT
GRCh38.p14 chr 8	NC_000008.11:g.64607399_64607416delinsTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 8	NC_000008.10:g.65519969_65519973del
GRCh37.p13 chr 8	NC_000008.10:g.65519970_65519973del
GRCh37.p13 chr 8	NC_000008.10:g.65519971_65519973del
GRCh37.p13 chr 8	NC_000008.10:g.65519972_65519973del
GRCh37.p13 chr 8	NC_000008.10:g.65519973del
GRCh37.p13 chr 8	NC_000008.10:g.65519973dup
GRCh37.p13 chr 8	NC_000008.10:g.65519972_65519973dup
GRCh37.p13 chr 8	NC_000008.10:g.65519971_65519973dup
GRCh37.p13 chr 8	NC_000008.10:g.65519970_65519973dup
GRCh37.p13 chr 8	NC_000008.10:g.65519967_65519973dup
GRCh37.p13 chr 8	NC_000008.10:g.65519965_65519973dup
GRCh37.p13 chr 8	NC_000008.10:g.65519964_65519973dup
GRCh37.p13 chr 8	NC_000008.10:g.65519963_65519973dup
GRCh37.p13 chr 8	NC_000008.10:g.65519961_65519973dup
GRCh37.p13 chr 8	NC_000008.10:g.65519973_65519974insAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 8	NC_000008.10:g.65519956_65519973delinsTTTTTTTTTTTTTTTT
GRCh37.p13 chr 8	NC_000008.10:g.65519956_65519973delinsTTTTTTTTTTTTTTTTTTT
CYP7B1 RefSeqGene	NG_008338.2:g.196389_196393del
CYP7B1 RefSeqGene	NG_008338.2:g.196390_196393del
CYP7B1 RefSeqGene	NG_008338.2:g.196391_196393del
CYP7B1 RefSeqGene	NG_008338.2:g.196392_196393del
CYP7B1 RefSeqGene	NG_008338.2:g.196393del
CYP7B1 RefSeqGene	NG_008338.2:g.196393dup
CYP7B1 RefSeqGene	NG_008338.2:g.196392_196393dup
CYP7B1 RefSeqGene	NG_008338.2:g.196391_196393dup
CYP7B1 RefSeqGene	NG_008338.2:g.196390_196393dup
CYP7B1 RefSeqGene	NG_008338.2:g.196387_196393dup
CYP7B1 RefSeqGene	NG_008338.2:g.196385_196393dup
CYP7B1 RefSeqGene	NG_008338.2:g.196384_196393dup
CYP7B1 RefSeqGene	NG_008338.2:g.196383_196393dup
CYP7B1 RefSeqGene	NG_008338.2:g.196381_196393dup
CYP7B1 RefSeqGene	NG_008338.2:g.196393_196394insTTTTTTTTTTTTTTTTTTT
CYP7B1 RefSeqGene	NG_008338.2:g.196376_196393delinsAAAAAAAAAAAAAAAA
CYP7B1 RefSeqGene	NG_008338.2:g.196376_196393delinsAAAAAAAAAAAAAAAAAAA

Gene: CYP7B1, cytochrome P450 family 7 subfamily B member 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CYP7B1 transcript variant 2	NM_001324112.2:c.1058-254… NM_001324112.2:c.1058-2546_1058-2542del	N/A	Intron Variant
CYP7B1 transcript variant 1	NM_004820.5:c.1058-2546_1… NM_004820.5:c.1058-2546_1058-2542del	N/A	Intron Variant
CYP7B1 transcript variant X1	XM_017014002.2:c.1124-254… XM_017014002.2:c.1124-2546_1124-2542del	N/A	Intron Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	(A)₁₈=	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₇	dup(A)₉	dup(A)₁₀	dup(A)₁₁	dup(A)₁₃	ins(A)₁₉	del(A)₁₈ins(T)₁₆	del(A)₁₈ins(T)₁₉
GRCh38.p14 chr 8	NC_000008.11:g.64607399_64607416=	NC_000008.11:g.64607412_64607416del	NC_000008.11:g.64607413_64607416del	NC_000008.11:g.64607414_64607416del	NC_000008.11:g.64607415_64607416del	NC_000008.11:g.64607416del	NC_000008.11:g.64607416dup	NC_000008.11:g.64607415_64607416dup	NC_000008.11:g.64607414_64607416dup	NC_000008.11:g.64607413_64607416dup	NC_000008.11:g.64607410_64607416dup	NC_000008.11:g.64607408_64607416dup	NC_000008.11:g.64607407_64607416dup	NC_000008.11:g.64607406_64607416dup	NC_000008.11:g.64607404_64607416dup	NC_000008.11:g.64607416_64607417insAAAAAAAAAAAAAAAAAAA	NC_000008.11:g.64607399_64607416delinsTTTTTTTTTTTTTTTT	NC_000008.11:g.64607399_64607416delinsTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 8	NC_000008.10:g.65519956_65519973=	NC_000008.10:g.65519969_65519973del	NC_000008.10:g.65519970_65519973del	NC_000008.10:g.65519971_65519973del	NC_000008.10:g.65519972_65519973del	NC_000008.10:g.65519973del	NC_000008.10:g.65519973dup	NC_000008.10:g.65519972_65519973dup	NC_000008.10:g.65519971_65519973dup	NC_000008.10:g.65519970_65519973dup	NC_000008.10:g.65519967_65519973dup	NC_000008.10:g.65519965_65519973dup	NC_000008.10:g.65519964_65519973dup	NC_000008.10:g.65519963_65519973dup	NC_000008.10:g.65519961_65519973dup	NC_000008.10:g.65519973_65519974insAAAAAAAAAAAAAAAAAAA	NC_000008.10:g.65519956_65519973delinsTTTTTTTTTTTTTTTT	NC_000008.10:g.65519956_65519973delinsTTTTTTTTTTTTTTTTTTT
CYP7B1 RefSeqGene	NG_008338.2:g.196376_196393=	NG_008338.2:g.196389_196393del	NG_008338.2:g.196390_196393del	NG_008338.2:g.196391_196393del	NG_008338.2:g.196392_196393del	NG_008338.2:g.196393del	NG_008338.2:g.196393dup	NG_008338.2:g.196392_196393dup	NG_008338.2:g.196391_196393dup	NG_008338.2:g.196390_196393dup	NG_008338.2:g.196387_196393dup	NG_008338.2:g.196385_196393dup	NG_008338.2:g.196384_196393dup	NG_008338.2:g.196383_196393dup	NG_008338.2:g.196381_196393dup	NG_008338.2:g.196393_196394insTTTTTTTTTTTTTTTTTTT	NG_008338.2:g.196376_196393delinsAAAAAAAAAAAAAAAA	NG_008338.2:g.196376_196393delinsAAAAAAAAAAAAAAAAAAA
CYP7B1 transcript variant 2	NM_001324112.2:c.1058-2542=	NM_001324112.2:c.1058-2546_1058-2542del	NM_001324112.2:c.1058-2545_1058-2542del	NM_001324112.2:c.1058-2544_1058-2542del	NM_001324112.2:c.1058-2543_1058-2542del	NM_001324112.2:c.1058-2542del	NM_001324112.2:c.1058-2542dup	NM_001324112.2:c.1058-2543_1058-2542dup	NM_001324112.2:c.1058-2544_1058-2542dup	NM_001324112.2:c.1058-2545_1058-2542dup	NM_001324112.2:c.1058-2548_1058-2542dup	NM_001324112.2:c.1058-2550_1058-2542dup	NM_001324112.2:c.1058-2551_1058-2542dup	NM_001324112.2:c.1058-2552_1058-2542dup	NM_001324112.2:c.1058-2554_1058-2542dup	NM_001324112.2:c.1058-2542_1058-2541insTTTTTTTTTTTTTTTTTTT	NM_001324112.2:c.1058-2559_1058-2542delinsAAAAAAAAAAAAAAAA	NM_001324112.2:c.1058-2559_1058-2542delinsAAAAAAAAAAAAAAAAAAA
CYP7B1 transcript	NM_004820.3:c.1058-2542=	NM_004820.3:c.1058-2546_1058-2542del	NM_004820.3:c.1058-2545_1058-2542del	NM_004820.3:c.1058-2544_1058-2542del	NM_004820.3:c.1058-2543_1058-2542del	NM_004820.3:c.1058-2542del	NM_004820.3:c.1058-2542dup	NM_004820.3:c.1058-2543_1058-2542dup	NM_004820.3:c.1058-2544_1058-2542dup	NM_004820.3:c.1058-2545_1058-2542dup	NM_004820.3:c.1058-2548_1058-2542dup	NM_004820.3:c.1058-2550_1058-2542dup	NM_004820.3:c.1058-2551_1058-2542dup	NM_004820.3:c.1058-2552_1058-2542dup	NM_004820.3:c.1058-2554_1058-2542dup	NM_004820.3:c.1058-2542_1058-2541insTTTTTTTTTTTTTTTTTTT	NM_004820.3:c.1058-2559_1058-2542delinsAAAAAAAAAAAAAAAA	NM_004820.3:c.1058-2559_1058-2542delinsAAAAAAAAAAAAAAAAAAA
CYP7B1 transcript variant 1	NM_004820.5:c.1058-2542=	NM_004820.5:c.1058-2546_1058-2542del	NM_004820.5:c.1058-2545_1058-2542del	NM_004820.5:c.1058-2544_1058-2542del	NM_004820.5:c.1058-2543_1058-2542del	NM_004820.5:c.1058-2542del	NM_004820.5:c.1058-2542dup	NM_004820.5:c.1058-2543_1058-2542dup	NM_004820.5:c.1058-2544_1058-2542dup	NM_004820.5:c.1058-2545_1058-2542dup	NM_004820.5:c.1058-2548_1058-2542dup	NM_004820.5:c.1058-2550_1058-2542dup	NM_004820.5:c.1058-2551_1058-2542dup	NM_004820.5:c.1058-2552_1058-2542dup	NM_004820.5:c.1058-2554_1058-2542dup	NM_004820.5:c.1058-2542_1058-2541insTTTTTTTTTTTTTTTTTTT	NM_004820.5:c.1058-2559_1058-2542delinsAAAAAAAAAAAAAAAA	NM_004820.5:c.1058-2559_1058-2542delinsAAAAAAAAAAAAAAAAAAA
CYP7B1 transcript variant X1	XM_017014002.2:c.1124-2542=	XM_017014002.2:c.1124-2546_1124-2542del	XM_017014002.2:c.1124-2545_1124-2542del	XM_017014002.2:c.1124-2544_1124-2542del	XM_017014002.2:c.1124-2543_1124-2542del	XM_017014002.2:c.1124-2542del	XM_017014002.2:c.1124-2542dup	XM_017014002.2:c.1124-2543_1124-2542dup	XM_017014002.2:c.1124-2544_1124-2542dup	XM_017014002.2:c.1124-2545_1124-2542dup	XM_017014002.2:c.1124-2548_1124-2542dup	XM_017014002.2:c.1124-2550_1124-2542dup	XM_017014002.2:c.1124-2551_1124-2542dup	XM_017014002.2:c.1124-2552_1124-2542dup	XM_017014002.2:c.1124-2554_1124-2542dup	XM_017014002.2:c.1124-2542_1124-2541insTTTTTTTTTTTTTTTTTTT	XM_017014002.2:c.1124-2559_1124-2542delinsAAAAAAAAAAAAAAAA	XM_017014002.2:c.1124-2559_1124-2542delinsAAAAAAAAAAAAAAAAAAA

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

64 SubSNP, 30 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	DEVINE_LAB	ss8161657	Mar 15, 2016 (147)
2	RIKENSNPRC	ss12587795	Aug 27, 2003 (117)
3	ABI	ss43198155	Mar 14, 2006 (137)
4	HGSV	ss77933877	Sep 08, 2015 (146)
5	HUMANGENOME_JCVI	ss95494062	Dec 05, 2013 (138)
6	GMI	ss288911979	May 04, 2012 (137)
7	GMI	ss288911980	May 04, 2012 (137)
8	PJP	ss295384169	May 09, 2011 (137)
9	PJP	ss295384170	May 09, 2011 (134)
10	SSMP	ss663865897	Apr 01, 2015 (144)
11	BILGI_BIOE	ss666439891	Apr 25, 2013 (138)
12	SSIP	ss947221106	Aug 21, 2014 (142)
13	1000GENOMES	ss1367961131	Aug 21, 2014 (142)
14	EVA_UK10K_ALSPAC	ss1706082721	Jan 10, 2018 (151)
15	EVA_UK10K_TWINSUK	ss1706082740	Jan 10, 2018 (151)
16	EVA_UK10K_TWINSUK	ss1710384310	Apr 01, 2015 (144)
17	EVA_UK10K_ALSPAC	ss1710384330	Apr 01, 2015 (144)
18	SWEGEN	ss3003312678	Jan 10, 2018 (151)
19	MCHAISSO	ss3065189929	Nov 08, 2017 (151)
20	MCHAISSO	ss3066205810	Nov 08, 2017 (151)
21	EVA_DECODE	ss3722174759	Jul 13, 2019 (153)
22	EVA_DECODE	ss3722174760	Jul 13, 2019 (153)
23	EVA_DECODE	ss3722174761	Jul 13, 2019 (153)
24	EVA_DECODE	ss3722174762	Jul 13, 2019 (153)
25	ACPOP	ss3735732907	Jul 13, 2019 (153)
26	ACPOP	ss3735732908	Jul 13, 2019 (153)
27	ACPOP	ss3735732909	Jul 13, 2019 (153)
28	PACBIO	ss3786166461	Jul 13, 2019 (153)
29	KHV_HUMAN_GENOMES	ss3811257723	Jul 13, 2019 (153)
30	EVA	ss3831203621	Apr 26, 2020 (154)
31	EVA	ss3839110986	Apr 26, 2020 (154)
32	EVA	ss3844570748	Apr 26, 2020 (154)
33	GNOMAD	ss4185833234	Apr 26, 2021 (155)
34	GNOMAD	ss4185833235	Apr 26, 2021 (155)
35	GNOMAD	ss4185833236	Apr 26, 2021 (155)
36	GNOMAD	ss4185833237	Apr 26, 2021 (155)
37	GNOMAD	ss4185833238	Apr 26, 2021 (155)
38	GNOMAD	ss4185833239	Apr 26, 2021 (155)
39	GNOMAD	ss4185833240	Apr 26, 2021 (155)
40	GNOMAD	ss4185833241	Apr 26, 2021 (155)
41	GNOMAD	ss4185833242	Apr 26, 2021 (155)
42	GNOMAD	ss4185833243	Apr 26, 2021 (155)
43	GNOMAD	ss4185833245	Apr 26, 2021 (155)
44	GNOMAD	ss4185833246	Apr 26, 2021 (155)
45	GNOMAD	ss4185833247	Apr 26, 2021 (155)
46	TOMMO_GENOMICS	ss5189076720	Apr 26, 2021 (155)
47	TOMMO_GENOMICS	ss5189076721	Apr 26, 2021 (155)
48	TOMMO_GENOMICS	ss5189076722	Apr 26, 2021 (155)
49	TOMMO_GENOMICS	ss5189076723	Apr 26, 2021 (155)
50	1000G_HIGH_COVERAGE	ss5277428706	Oct 16, 2022 (156)
51	1000G_HIGH_COVERAGE	ss5277428707	Oct 16, 2022 (156)
52	1000G_HIGH_COVERAGE	ss5277428708	Oct 16, 2022 (156)
53	1000G_HIGH_COVERAGE	ss5277428709	Oct 16, 2022 (156)
54	1000G_HIGH_COVERAGE	ss5277428710	Oct 16, 2022 (156)
55	HUGCELL_USP	ss5473966182	Oct 16, 2022 (156)
56	HUGCELL_USP	ss5473966183	Oct 16, 2022 (156)
57	HUGCELL_USP	ss5473966184	Oct 16, 2022 (156)
58	TOMMO_GENOMICS	ss5731247772	Oct 16, 2022 (156)
59	TOMMO_GENOMICS	ss5731247773	Oct 16, 2022 (156)
60	TOMMO_GENOMICS	ss5731247774	Oct 16, 2022 (156)
61	TOMMO_GENOMICS	ss5731247775	Oct 16, 2022 (156)
62	EVA	ss5830645399	Oct 16, 2022 (156)
63	EVA	ss5830645400	Oct 16, 2022 (156)
64	EVA	ss5830645401	Oct 16, 2022 (156)
65	1000Genomes	NC_000008.10 - 65519956	Oct 12, 2018 (152)
66	The Avon Longitudinal Study of Parents and Children	NC_000008.10 - 65519956	Oct 12, 2018 (152)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 298440519 (NC_000008.11:64607398::A 8108/132476) Row 298440520 (NC_000008.11:64607398::AA 27/132510) Row 298440521 (NC_000008.11:64607398::AAA 6/132526)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 298440519 (NC_000008.11:64607398::A 8108/132476) Row 298440520 (NC_000008.11:64607398::AA 27/132510) Row 298440521 (NC_000008.11:64607398::AAA 6/132526)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 298440519 (NC_000008.11:64607398::A 8108/132476) Row 298440520 (NC_000008.11:64607398::AA 27/132510) Row 298440521 (NC_000008.11:64607398::AAA 6/132526)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 298440519 (NC_000008.11:64607398::A 8108/132476) Row 298440520 (NC_000008.11:64607398::AA 27/132510) Row 298440521 (NC_000008.11:64607398::AAA 6/132526)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 298440519 (NC_000008.11:64607398::A 8108/132476) Row 298440520 (NC_000008.11:64607398::AA 27/132510) Row 298440521 (NC_000008.11:64607398::AAA 6/132526)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 298440519 (NC_000008.11:64607398::A 8108/132476) Row 298440520 (NC_000008.11:64607398::AA 27/132510) Row 298440521 (NC_000008.11:64607398::AAA 6/132526)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 298440519 (NC_000008.11:64607398::A 8108/132476) Row 298440520 (NC_000008.11:64607398::AA 27/132510) Row 298440521 (NC_000008.11:64607398::AAA 6/132526)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 298440519 (NC_000008.11:64607398::A 8108/132476) Row 298440520 (NC_000008.11:64607398::AA 27/132510) Row 298440521 (NC_000008.11:64607398::AAA 6/132526)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 298440519 (NC_000008.11:64607398::A 8108/132476) Row 298440520 (NC_000008.11:64607398::AA 27/132510) Row 298440521 (NC_000008.11:64607398::AAA 6/132526)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 298440519 (NC_000008.11:64607398::A 8108/132476) Row 298440520 (NC_000008.11:64607398::AA 27/132510) Row 298440521 (NC_000008.11:64607398::AAA 6/132526)...	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 298440519 (NC_000008.11:64607398::A 8108/132476) Row 298440520 (NC_000008.11:64607398::AA 27/132510) Row 298440521 (NC_000008.11:64607398::AAA 6/132526)...	-	Apr 26, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 298440519 (NC_000008.11:64607398::A 8108/132476) Row 298440520 (NC_000008.11:64607398::AA 27/132510) Row 298440521 (NC_000008.11:64607398::AAA 6/132526)...	-	Apr 26, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 298440519 (NC_000008.11:64607398::A 8108/132476) Row 298440520 (NC_000008.11:64607398::AA 27/132510) Row 298440521 (NC_000008.11:64607398::AAA 6/132526)...	-	Apr 26, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 298440519 (NC_000008.11:64607398::A 8108/132476) Row 298440520 (NC_000008.11:64607398::AA 27/132510) Row 298440521 (NC_000008.11:64607398::AAA 6/132526)...	-	Apr 26, 2021 (155)
81	Northern Sweden Submission ignored due to conflicting rows: Row 9017772 (NC_000008.10:65519955:A: 362/594) Row 9017773 (NC_000008.10:65519955:AA: 72/594) Row 9017774 (NC_000008.10:65519955::A 28/594)	-	Jul 13, 2019 (153)
82	Northern Sweden Submission ignored due to conflicting rows: Row 9017772 (NC_000008.10:65519955:A: 362/594) Row 9017773 (NC_000008.10:65519955:AA: 72/594) Row 9017774 (NC_000008.10:65519955::A 28/594)	-	Jul 13, 2019 (153)
83	Northern Sweden Submission ignored due to conflicting rows: Row 9017772 (NC_000008.10:65519955:A: 362/594) Row 9017773 (NC_000008.10:65519955:AA: 72/594) Row 9017774 (NC_000008.10:65519955::A 28/594)	-	Jul 13, 2019 (153)
84	8.3KJPN Submission ignored due to conflicting rows: Row 47046027 (NC_000008.10:65519955:A: 8686/16756) Row 47046028 (NC_000008.10:65519955::A 3985/16756) Row 47046029 (NC_000008.10:65519955:AA: 142/16756)...	-	Apr 26, 2021 (155)
85	8.3KJPN Submission ignored due to conflicting rows: Row 47046027 (NC_000008.10:65519955:A: 8686/16756) Row 47046028 (NC_000008.10:65519955::A 3985/16756) Row 47046029 (NC_000008.10:65519955:AA: 142/16756)...	-	Apr 26, 2021 (155)
86	8.3KJPN Submission ignored due to conflicting rows: Row 47046027 (NC_000008.10:65519955:A: 8686/16756) Row 47046028 (NC_000008.10:65519955::A 3985/16756) Row 47046029 (NC_000008.10:65519955:AA: 142/16756)...	-	Apr 26, 2021 (155)
87	8.3KJPN Submission ignored due to conflicting rows: Row 47046027 (NC_000008.10:65519955:A: 8686/16756) Row 47046028 (NC_000008.10:65519955::A 3985/16756) Row 47046029 (NC_000008.10:65519955:AA: 142/16756)...	-	Apr 26, 2021 (155)
88	14KJPN Submission ignored due to conflicting rows: Row 65084876 (NC_000008.11:64607398:A: 14474/28258) Row 65084877 (NC_000008.11:64607398::A 6778/28258) Row 65084878 (NC_000008.11:64607398:AA: 210/28258)...	-	Oct 16, 2022 (156)
89	14KJPN Submission ignored due to conflicting rows: Row 65084876 (NC_000008.11:64607398:A: 14474/28258) Row 65084877 (NC_000008.11:64607398::A 6778/28258) Row 65084878 (NC_000008.11:64607398:AA: 210/28258)...	-	Oct 16, 2022 (156)
90	14KJPN Submission ignored due to conflicting rows: Row 65084876 (NC_000008.11:64607398:A: 14474/28258) Row 65084877 (NC_000008.11:64607398::A 6778/28258) Row 65084878 (NC_000008.11:64607398:AA: 210/28258)...	-	Oct 16, 2022 (156)
91	14KJPN Submission ignored due to conflicting rows: Row 65084876 (NC_000008.11:64607398:A: 14474/28258) Row 65084877 (NC_000008.11:64607398::A 6778/28258) Row 65084878 (NC_000008.11:64607398:AA: 210/28258)...	-	Oct 16, 2022 (156)
92	UK 10K study - Twins Submission ignored due to conflicting rows: Row 23538131 (NC_000008.10:65519956:A: 2628/3708) Row 23538132 (NC_000008.10:65519955:AA: 636/3708)	-	Apr 26, 2020 (154)
93	UK 10K study - Twins	-	Oct 12, 2018 (152)
94	ALFA	NC_000008.11 - 64607399	Apr 26, 2021 (155)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs869153726	Jul 19, 2016 (147)
rs796364159	Nov 08, 2017 (151)
rs33985686	May 23, 2006 (127)
rs35337808	May 11, 2012 (137)
rs376783446	May 13, 2013 (138)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4185833247	NC_000008.11:64607398:AAAAA:	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
5508153068	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss5277428710	NC_000008.11:64607398:AAAA:	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
5508153068	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss5830645401	NC_000008.10:65519955:AAA:	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA
ss3722174762, ss4185833246, ss5277428708	NC_000008.11:64607398:AAA:	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
5508153068	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
23538132, ss1706082721, ss1706082740, ss3003312678, ss3735732908, ss5189076722, ss5830645400	NC_000008.10:65519955:AA:	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4185833245, ss5277428709, ss5473966182, ss5731247774	NC_000008.11:64607398:AA:	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
5508153068	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3722174761	NC_000008.11:64607399:AA:	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss288911979, ss295384169	NC_000008.9:65682509:A:	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss77933877, ss295384170	NC_000008.9:65682526:A:	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
42323201, ss663865897, ss666439891, ss1367961131, ss3735732907, ss3786166461, ss3831203621, ss3839110986, ss5189076720, ss5830645399	NC_000008.10:65519955:A:	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss1710384310, ss1710384330	NC_000008.10:65519956:A:	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3065189929, ss3066205810, ss3811257723, ss3844570748, ss5277428706, ss5473966183, ss5731247772	NC_000008.11:64607398:A:	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
5508153068	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3722174760	NC_000008.11:64607400:A:	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss43198155	NT_008183.19:17384356:A:	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss8161657, ss95494062	NT_008183.19:17384373:A:	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss288911980	NC_000008.9:65682527::A	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3735732909, ss5189076721	NC_000008.10:65519955::A	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss947221106	NC_000008.10:65519956::A	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4185833234, ss5277428707, ss5473966184, ss5731247773	NC_000008.11:64607398::A	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
5508153068	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3722174759	NC_000008.11:64607401::A	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss5189076723	NC_000008.10:65519955::AA	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4185833235, ss5731247775	NC_000008.11:64607398::AA	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
5508153068	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4185833236	NC_000008.11:64607398::AAA	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
5508153068	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4185833237	NC_000008.11:64607398::AAAA	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4185833238	NC_000008.11:64607398::AAAAAAA	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4185833239	NC_000008.11:64607398::AAAAAAAAA	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4185833240	NC_000008.11:64607398::AAAAAAAAAA	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4185833241	NC_000008.11:64607398::AAAAAAAAAAA	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4185833242	NC_000008.11:64607398::AAAAAAAAAAA… NC_000008.11:64607398::AAAAAAAAAAAAA	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4185833243	NC_000008.11:64607398::AAAAAAAAAAA… NC_000008.11:64607398::AAAAAAAAAAAAAAAAAAA	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss12587795	NT_008183.19:17384356:AAAAAAAAAAAA… NT_008183.19:17384356:AAAAAAAAAAAAAAAAAA:TTTTTTTTTTTTTTTT	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:TTTTTTTTTTTTTTTT	(self)
ss12587795	NT_008183.19:17384356:AAAAAAAAAAAA… NT_008183.19:17384356:AAAAAAAAAAAAAAAAAA:TTTTTTTTTTTTTTTTTTT	NC_000008.11:64607398:AAAAAAAAAAAA… NC_000008.11:64607398:AAAAAAAAAAAAAAAAAA:TTTTTTTTTTTTTTTTTTT	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs5891968

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs5891968